Familial hemiplegic migraine: a ion channel disorder |
| |
Authors: | Paola Carrera Stefania Stenirri Maurizio Ferrari Stefania Battistini |
| |
Affiliation: | I.R.C.C.S. H San Raffaele, Laboratorio Biologia Molecolare Clinica, Milano, Italy. carrera.paola@hsr.it |
| |
Abstract: | At present, little information is available on the genetics of common migraines, most likely to be considered a multifactorial disease. Recently, the CACNA1A gene encoding the brain-specific P/Q type calcium channel alpha(1) subunit, has been cloned and mutations in this gene, located on chromosome 19p13, have been shown to be involved in familial hemiplegic migraine (FHM), a rare autosomal dominantly inherited subtype of migraine with aura. Being part of the migraine spectrum, FHM represents a good model to study the genetics of more common forms of migraine. Different classes of mutations within the CACNA1A gene have been associated with different diseases, thus identifying a new member among 'channelopathies'. Variable clinical expression and genetic heterogeneity of FHM will be discussed. |
| |
Keywords: | Migraine Channelopathies CACNA1A gene Mutations |
本文献已被 ScienceDirect 等数据库收录! |
|